Chronic alcohol exposure negatively impacts pancreatic mitochondrial thiamin pyrophosphate transport, and this effect is exerted, at least in part, at the level of Slc25a19 transcription and appears to involve an epigenetic mechanism.

We review the evidence that the function of the SLC25A19 gene product, previously identified as the mitochondrial deoxyribonucleotide carrier (DNC), is actually the transport of thiamine pyrophosphate.[review]

Chronic alcohol exposure negatively impacts pancreatic mitochondrial thiamin pyrophosphate transport, and this effect is exerted, at least in part, at the level of Slc25a19 transcription and appears to involve an epigenetic mechanism.

These findings demonstrate that the genes involved in dictating thiamine homeostasis, such as SLC19A2, SLC25A19 and TPK-1, were significantly up-regulated in clinical tissues and breast cancer cell lines.

Characterization of the SLC25A19 promoter and demonstration of an essential role for NF-Y in its basal activity.

Compares and contrasts all the known human SLC25A (show SLC25A25 Proteins)* genes and includes functional information.

We review the evidence that the function of the SLC25A19 gene product, previously identified as the mitochondrial deoxyribonucleotide carrier (DNC), is actually the transport of thiamine pyrophosphate.[review]

a pathogenic missense mutation in the SLC25A19 gene was identifiedin 4 patients who suffered from recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy

Protein Summary

This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria. Mutations in this gene cause microcephaly, Amish type, a metabolic disease that results in severe congenital microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene.